New genes variants found for multiple sclerosis

Many of the genes implicated in the study are relevant to the immune system, shedding light onto the immunological pathways that underlie the development of multiple sclerosis. The research – the largest MS genetics study ever undertaken – involved an international team of investigators led by the Universities of Cambridge and Oxford.

The study included contributions from almost 250 researchers as members of the International Multiple Sclerosis Genetics Consortium and the Wellcome Trust Case Control Consortium, and is published in the journal Nature.

Multiple sclerosis is one of the most common neurological conditions among young adults, affecting around 2.5 million people worldwide. The disease results from damage to nerve fibres and their protective insulation, the myelin sheath, in the brain and spinal cord.

The affected pathways – responsible in health for everyday activities such as seeing, walking, feeling, thinking and controlling the bowel and bladder – are prevented from ‘firing’ properly and eventually are destroyed. The findings focus attention on the pivotal role of the immune system in causing the damage and help to explain the nature of the immune attack on the brain and spinal cord. Researchers studied the DNA from 9,772 individuals with multiple sclerosis and 17,376 unrelated healthy controls in this multi-population study. They were able to confirm 23 previously known genetic associations and identified a further 29 new genetic variants conferring susceptibility to the disease.

A large number of the genes implicated by these findings play pivotal roles in the workings of the immune system, specifically in the function of T-cells (one type of white blood cell responsible for mounting an immune response against foreign substances but also involved in autoimmunity) as well as the activation of ‘interleukins’ (chemicals that ensure interactions between different types of immune cells).